Genomics & Health Impact Update
Volume 31 Number 4 July 25 - August 1, 2013
Did you know? 1572 genes have been reported in relation to obesity risk and outcomes, including 138 genomewide association studies. To find out more, visit the HuGE Navigator
Find out about genetic conditions associated with obesity, gene reviews and available genetic tests using the NIH Genetic Testing Registry
Current Scientific Findings on Obesity
Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity.
Masato Asai et al. Science, Jul 19
Rare gene mutations suggest one more path to obesity, by Rebecca Voelker, JAMA News, Jul 18
Overweight? Maybe you really can blame your genes, by Gina Kolata, New York Times, Jul 18
Stop blaming genetics for your weight, by M Hart, Huffington Post, Jul 19
Do these genes make me look fat? A new study zeroes in on a bit of a DNA that leads to ‘obesity-prone behaviors’, by Kent Sepkowitz, Daily Beast, Jul 18
A link between FTO, ghrelin, and impaired brain food-cue responsivity.
Karra E, et al. J Clin Invest. 2013 Jul 15. pii: 44403.
Obesity gene boosts hunger hormone, by Rebecca Bazeley, PHG Foundation, Jul 22
CDC feature: Aging and health in America, 2013
Genetics and genomics of human aging.
Heather E. Wheeler and Stuart K. Kim Philos Trans R Soc Lond B Biol Sci. 2011 January 12; 366(1561): 43–50.
A genome-wide association study of aging.
Neurobiol Aging. 2011 Nov;32(11):2109.e15-28.
CDC infomation:Why is family history important for your health at any age?
Information on genomics in selected diseases related to aging:
Alzheimer's disease genetics fact sheet, from the National Institute on Aging
Age-related macular degeneration genetics, from the NIH Genetics Home Reference
Heart disease, genomics and family history, CDC information
Breast and ovarian cancer, genomics and family health history, CDC information
Colorectal cancer, genomics and family history, CDC information
Incidental swimming with millstones.
Stephen F. Kingsmore Sci Transl Med 17 Jul 2013: Vol. 5, Issue 194, p. 194ed10
Reflecting on earlier experiences with unsolicited findings: Points to consider for next generation sequencing and informed consent in diagnostics.
Rigter T, et al. Hum Mutat. 2013 Jun 19.
Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional
Robert C. Green, et al. JAMA. 2013;310(4):365-366.
Mandatory extended searches in all genome sequencing: “incidental findings,” patient autonomy, and shared decision making
Lainie Friedman Ross, et al. JAMA. 2013;310(4):367-368.
Return of secondary genomic findings vs patient autonomy: Implications for medical care
Robert Klitzman, et al. JAMA. 2013;310(4):369-370.
CDC paper: How can polygenic inheritance be used in population screening for common diseases?
Khoury MJ et al. Genetics in Medicine Feb 14, 2013
Public health implications of genomics and potential for risk stratification and screening
Hilary Burton et al. Nature Genetics 2013;45:349-351
Future cancer screening may be improved by the use of genetic information, PHG Foundation, March 27
CDC information: Breast and ovarian cancer and family health history
CDC information: Genetic testing for breast and ovarian cancer
Genomic medicine, precision medicine, personalized medicine: What's in a name?
Roden DM & Tyndale RF Clin Pharmacol Ther 2013 Aug;94(2):169-72
The opportunities and challenges of implementing genomics-informed personalized medicine
Chisholm RL Clin Pharmacol Ther 2013 Aug;94(2):181-2
CYP2D6 genotype should not be used to determine endocrine therapy in postmenopausal breast cancer patients
Rae JM Clin Pharmacol Ther 2013 Aug;94(2):183-5
CYP2D6 genotype and tamoxifen cctivity: Understanding interstudy variability in methodological quality
Ratain MJ, et al. Clin Pharmacol Ther 2013 Aug;94(2):185-7
Genomic medicine: too great expectations?
O'Rourke PP Clin Pharmacol Ther 2013 Aug;94(2):188-90
Genomic testing: the clinical laboratory perspective
Faruki H Clin Pharmacol Ther 2013 Aug;94(2):190-2
Educational challenges in implementing genomic medicine
Passamani E Clin Pharmacol Ther 2013 Aug;94(2):192-5
Challenges in the pharmacogenomic annotation of whole genomes
R B Altman, et al. Clinical Pharmacology & Therapeutics (2013); 94 2, 211–213
A health-care system perspective on implementing genomic medicine: Pediatric acute lymphoblastic leukemia as a paradigm
Evans WE, et al. Clin Pharmacol Ther 2013 Aug;94(2):224-9
CDC feature: World Hepatitis Day July 28
World Hepatitis Day July 28, 2013: This is hepatitis. Know it. Confront it.
Combination therapy with telaprevir for chronic hepatitis C virus genotype 1 infection in patients with HIV: A randomized trial
Mark S. Sulkowski et al. Ann Internal Medicine July 16, 2013
Did you know: 1282 genes have been reported with hepatitis risk and outcomes, including 44 genomewide association studies. To find out more, visit the HuGE Navigator
Find out which genetic conditions and what genetic tests are available for hepatitis. Visit the NIH Genetic Testing Registry
CDC information: Real stories from people living with Fragile X syndrome
Did you know: 280 genes have been reported in relation to epilepsy risk and outcomes including 7 genomewide association studies? To find out more, visit the HuGE Navigator
Did you know: 201 genetic conditions have been associated with epilepsy and 119 genetic tests are available. To find out more, visit the NIH Genetic Testing Registry
CDC information: Symptoms of ovarian cancer
NCI information: Some ovarian cancers are caused by inherited gene mutations.
CDC information: The importance of family health history in breast and ovarian cancer
Did you know: 758 genes have been reported in relation to risk and outcomes of ovarian cancer, including 14 genomewide association studies. BRCA1 and BRCA2 are the most common studied genes. To find out more, visit the HuGE Navigator
Did you know: 15 genetic conditions are associated with ovarian cancer and 11 genetic tests are available. To find out more, visit the NIH Genetic Testing Registry
Family Health History: Clinical decision support for quality improvement, March of Dimes Prematurity Prevention Network, July 30, 2013 1:30 PM - 3:00 PM EDT
American Society for Human Genetics, October 22-26, Boston, MA
National Institute of Aging: Collaborative research infrastructure to develop research strategies to identify potential therapeutic targets based on genetic factors influencing human life span and health Span (U24)
A comparison of the detection of BRCA mutation carriers through the provision of Jewish population-based genetic testing compared with clinic-based genetic testing.
Metcalfe KA, et al. Br J Cancer. 2013 Jun 18
Are physician recommendations for BRCA1/2 testing in patients with breast cancer appropriate? A population-based study
McCarthy AM, et al. Cancer 2013 Jul
Bridging the clinical gaps: genetic, epigenetic and transcriptomic biomarkers for the early detection of lung cancer in the post-National Lung Screening Trial era
Brothers JF, et al. BMC Med 2013;11:168
Diagnostic utility of p63 expression in the differential diagnosis of pagetoid squamous cell carcinoma in situ and extramammary Paget disease: A histopathologic study of 70 cases
Chang J, et al. Am J Dermatopathol 2013 Jul
Establishing optimal quantitative-polymerase chain reaction assays for routine diagnosis and tracking of minimal residual disease in JAK2-V617F associated myeloproliferative neoplasms: A joint European Leukemianet/ MPN&MPNr-EuroNet (COST ActionBM0902) study
Jovanovic JV, et al. Leukemia 2013 Jul
Experiences of predictive testing in young people at risk of Huntington's disease, familial cardiomyopathy or hereditary breast and ovarian cancer
Macleod R, et al. Eur J Hum Genet 2013 Jul
Feasibility of preemptive biomarker profiling for personalised early clinical drug development at a comprehensive cancer center
Wiesweg M, et al. Eur J Cancer 2013 Jul
Five-year analysis of magnetic resonance imaging as a screening tool in women at hereditary risk of breast cancer
Kam JK, et al. J Med Imaging Radiat Oncol 2013 Aug;57(4):400-6
Patient and provider attitudes toward genomic testing for prostate cancer susceptibility: a mixed method study
Birmingham WC, et al. BMC Health Serv Res 2013 Jul;13(1):279
Patient-reported hereditary breast and ovarian cancer in a primary care practice
Quillin JM, et al. J Community Genet 2013 Jul
Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care
Miller FA, et al. Eur J Hum Genet 2013 Jul
Ethics, Policy and Law
Informing public health policy through deliberative public engagement: Perceived impact on participants and citizen-government relations
Molster C, et al. Genet Test Mol Biomarkers 2013 Jul
Who owns human genes? Is DNA patentable
Lawrence Gostin, JAMA July 22
Could Myriad be forced to license BRCA testing in US? PHG Foundation, Jul 23
JAMA Forum: Supreme Court decision on “pay-for-delay” case will speed marketing of generic drugs and save consumers and taxpayers billions, by Lawrence Gostin, News@Jama, Jul 22
Could Myriad be forced to license BRCA testing in US? By Dr Philippa Brice, PHG Foundation, Jul 23
Family history of cancer and the risk of cancer: a network of case–control studies
Turati F, et al. Ann Oncol (2013) Jul 24
Study confirms cancers-family link, BBC News, Jul 25
Genomics in Practice
Genomics in clinical practice: lessons from the front lines
Jacob HJ, et al. Sci Transl Med 2013 Jul;5(194):194cm5
Medical management adherence as an outcome of genetic counseling in a pediatric setting
Sarah Rutherford et al. Genet Med, July 18
Impact of genetics on the clinical management of channelopathies
Schwartz P, et al. J Am Coll Cardiol. 2013;62(3):169-180.
Integration of genomics into nursing practice - Kathleen Calzone. June 28. Video from the NHGRI Genomics in Medicine lecture series.
The opportunities and challenges of implementing genomics-informed personalized medicine
Chisholm RL Clin Pharmacol Ther 2013 Aug;94(2):181-2
Genetic testing of sperm donors for cystic fibrosis and spinal muscular atrophy: Evaluation of clinical utility
Landaburu I, et al. Eur J Obstet Gynecol Reprod Biol 2013 Jul
Guidelines and Recommendations
Fabry disease practice guidelines: Recommendations of the National Society of Genetic Counselors
Laney DA, et al. J Genet Couns 2013 Jul
Health care provider recommendations for reducing cancer risks among women with a BRCA1 or BRCA2 mutation
Metcalfe KA, et al. Clin Genet 2013 Jul
Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology.
Lindeman NI, et al. Arch Pathol Lab Med. 2013 Jun;137(6):828-60.
Results from the New Jersey statewide critical congenital heart defects screening program.
Garg LF, et al. Pediatrics. 2013 Jul 15.
A pilot study to evaluate awareness of and attitudes about prenatal and neonatal genetic testing in postpartum African American women.
Kusyk D, et al. J Natl Med Assoc. 2013 Spring;105(1):85-91.
OP-ED: Genetic screening: Every newborn a patient- Giving parents a torrent of information about a child's genetic disease risk will profoundly change the experience of bringing a new life into the world, by S. Timmermans, LA Times, Jul 19
Feasibility of implementing a comprehensive warfarin pharmacogenetics service
Nutescu EA, et al. Pharmacotherapy 2013 Jul
A new era in noninvasive prenatal testing
Morain S, et al. N Engl J Med 2013 Jul
Public Health Sciences
Best practices and joint calling of the HumanExome BeadChip: The CHARGE Consortium
Grove ML, et al. PLoS One 2013;8(7):e68095
DNA methylation as a long-term biomarker of exposure to tobacco smoke.
Shenker, Natalie S, et al. Epidemiology. July 17
Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine
Keyan Salari et al. PloSOne, July 2013
Global burden of sickle cell anaemia in children under five, 2010-2050: Modelling based on demographics, excess mortality, and interventions
Piel FB, et al. PLoS Med 2013 Jul;10(7):e1001484
An integrated clinico-metabolomic model improves prediction of death in sepsis
Raymond J. Langley, et al. Sci Transl Med 24 July 2013: Vol. 5, Issue 195, p. 195ra95
Pitfalls of predicting complex traits from SNPs.
Wray NR, et al.. Nat Rev Genet. 2013 Jul;14(7):507-15.
Using SNP genotypes to improve the discrimination of a simple breast cancer risk prediction model.
Dite GS, et al. Breast Cancer Res Treat. 2013 Jun;139(3):887-96
The impact of the availability of prevention studies on the desire to undergo predictive testing in persons at-risk for autosomal dominant Alzheimer's disease
Hooper M, et al. Contemp Clin Trials 2013 Jul
The influence of genetic explanations of type 2 diabetes on patients' attitudes to prevention, treatment and personal responsibility for health
Davies LE & Thirlaway K Public Health Genomics 2013 Jul
Reviews and Commentaries on Science & Technology
Musings. From personalized to public health genomics
Greg Gibson and Peter M Visscher Genome Medicine July 2013
Crowdsourcing key cancer questions, by Dr. Francis Collins, NIH Director’s Blog, Jul 23
Staying healthy may mean learning to love our microbiomes, by Rob Stein, National Public Radio, July 22
New CNiC post: Reducing cancer disparities through participating in clinical research, Graham Colditz, Jul 19
The time is now for gene- and genome-based bacterial diagnostics: “You say you want a revolution”.
Garth D. Ehrlich et al., JAMA Internal Medicine, July 15
Cancer gene data released-NCI has made public the largest-ever database of cancer-specific gene variations, paving the way for the development of new drugs and therapies,by Chris Palmer, The Scientist, Jul 18
Nature news blog: Genome assembly contest prompts soul-searching, by Erika Check Hayden, Jul 22
Tools and Databases
GEMINI: Integrative exploration of genetic variation and genome annotations.
Umadevi Paila et al. PLoS Computational Biology Jul 19
CDC authors are indicated in bold
Sequence analyses of 2012 West Nile virus isolates from Texas fail to associate viral genetic factors with outbreak magnitude
Duggal NK, D'Anton M, Xiang J, Seiferth R, Day J, Nasci R, Brault AC. Am J Trop Med Hyg. 2013 Jul 1.
Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics
Kalman LV, Lubin IM, Barker S, du Sart D, Elles R, Grody WW, Pazzagli M, Richards S, Schrijver I, Zehnbauer B. Arch Pathol Lab Med. 2013 Jul;137(7):983-988.
Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing
Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT, Toji L. J Mol Diagn. 2013 Jul;15(4):518-25.
A reassessment of the evolutionary timescale of bat rabies viruses based upon glycoprotein gene sequences
Kuzmina NA, Kuzmin IV, Ellison JA, Taylor ST, Bergman DL, Dew B, Rupprecht CE. Virus Genes. 2013 Jul 10.
Genetic divergence among members of the Kokobera group of flaviviruses supports their separation into distinct species
May FJ, Clark DC, Pham K, Diviney SM, Williams DT, Field EJ, Kuno G, Chang GJ, Cheah WY, Setoh YX, Prow NA, Hobson-Peters J, Hall RA. J Gen Virol. 2013 Jul;94(Pt 7):1462-7.
One year survey of human rotavirus strains suggests the emergence of genotype g12 in Cameroon
Ndze VN, Papp H, Achidi EA, Gonsu KH, Laszlo B, Farkas S, Kisfali P, Melegh B, Esona MD, Bowen MD, Banyai K, Gentsch JR, Odama AM. J Med Virol. 2013 Aug;85(8):1485-90.
The microRNA-200 family targets multiple non-small cell lung cancer prognostic markers in H1299 cells and BEAS-2B cells
Pacurari M, Addison JB, Bondalapati N, Wan YW, Luo D, Qian Y, Castranova V, Ivanov AV, Guo NL. Int J Oncol. 2013 Aug;43(2):548-60.
Biological networks for predicting chemical hepatocarcinogenicity using gene expression data from treated mice and relevance across human and rat species
Thomas R, Thomas RS, Auerbach SS, Portier CJ. PLoS ONE. 2013 ;8(5):e63308.
Biobanking, consent, and certificates of confidentiality: does the ANPRM muddy the water?
Williams BA, Wolf LE. J Law Med Ethics. 2013 Jun;41(2):440-453.
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